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Niemann-Pick disease type C1
Summary
- Synonym
-
- NPC1
- Definition
- A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2.
- Super Class
- Niemann-Pick disease
External Links
- Disease Ontology
- DOID:0070113
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 811 | CALR | calreticulin | |
| 933 | CD22 | CD22 molecule | |
| 1118 | CHIT1 | chitinase 1 | |
| 1374 | CPT1A | carnitine palmitoyltransferase 1A | |
| 2194 | FASN | fatty acid synthase | |
| 2208 | FCER2 | Fc epsilon receptor II | |
| 2220 | FCN2 | ficolin 2 | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2817 | GPC1 | glypican 1 | |
| 3965 | LGALS9 | galectin 9 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13231 | Chitotriosidase-1 | |
| Q15485 | Ficolin-2 | |
| Q8TDQ7 | Glucosamine-6-phosphate isomerase 2 | |
| Q9UNP4 | Lactosylceramide alpha-2,3-sialyltransferase |
